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NM_000053.4(ATP7B):c.1947-19T>A

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 21, 2020)
Last evaluated:
Feb 13, 2020
Accession:
VCV000812709.1
Variation ID:
812709
Description:
single nucleotide variant
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NM_000053.4(ATP7B):c.1947-19T>A

Allele ID
800960
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q14.3
Genomic location
13: 51960341 (GRCh38) GRCh38 UCSC
13: 52534477 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.52534477A>T
NC_000013.11:g.51960341A>T
NG_008806.1:g.56154T>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000013.11:51960340:A:T
Functional consequence
Variation affecting splicing function of RNA [Variation Ontology VariO:0397]
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1593733949
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Feb 13, 2020 RCV001003497.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ATP7B - - GRCh38
GRCh37
1325 1389

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 13, 2020)
criteria provided, single submitter
Method: research
Wilson disease
(Autosomal recessive inheritance)
Allele origin: inherited
Institute for Genomic Medicine, Nationwide Children's Hospital
Accession: SCV001161426.1
Submitted: (Feb 21, 2020)
Evidence details
Comment:
This variant was identified by whole-genome sequencing of a consanguineous family in which two children carry a clinical diagnosis of Wilson disease. It is absent … (more)

Functional evidence

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Functional consequence Method Result Submitter Supporting information
Variation affecting splicing function of RNA
  1. Method not provided
  1. Result not provided
Institute for Genomic Medicine, Nationwide Children's Hospital
Accession: SCV001161426.1
Submitted: (Feb 21, 2020)
Evidence details

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1593733949...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021